A girl with 46,XX,t(1;15) karyotype. Cytogenetic and clinical observations

Nutritional intake evolution in adolescent sporting boys over the last two decades.

Acta clinica Belgica·2011

The effect of zinc supplements in cystic fibrosis patients.

Annals of nutrition & metabolism·2008

Oral DHA supplementation in DeltaF508 homozygous cystic fibrosis patients.

Prostaglandins, leukotrienes, and essential fatty acids·2008

Serum zinc concentrations in cystic fibrosis patients aged above 4 years: a cross-sectional evaluation.

Biological trace element research·2007

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

American journal of human genetics·2006

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.

Human reproduction (Oxford, England)·2002

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

A Novel Flexor Tendon Reconstruction Technique in Children: A Potential Solution for a Rare Problem.

Journal of pediatric orthopedics·2026

Spinal Fusion in Prader-Willi Syndrome: Early Radiographic Outcomes and Complications With a Subset Analysis of Two-year Follow-up in a Multicenter Cohort.

Journal of pediatric orthopedics·2026

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A girl with 46,XX,t(1;15) karyotype. Cytogenetic and clinical observations

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Nutritional intake evolution in adolescent sporting boys over the last two decades.

The effect of zinc supplements in cystic fibrosis patients.

Oral DHA supplementation in DeltaF508 homozygous cystic fibrosis patients.

Serum zinc concentrations in cystic fibrosis patients aged above 4 years: a cross-sectional evaluation.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

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Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

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